Abstract:
OBJECTIVES:In the present study, we studied a cohort of patients with very early onset inflammatory bowel disease (IBD) to determine the frequency of mutations in the interleukin 10 (IL10) receptor genes as a cause of early-onset IBD. METHODS:Sanger sequencing was performed to determine the presence of IL10 and/or IL10 receptor mutations in 17 patients with a diagnosis of very early onset IBD (disease onset <2 years of age in 15 patients, between 3 and 4 years in the other 2). Mutation screening was performed including all of the coding regions of the IL10, IL10RA, and IL10RB genes. We then compared the follow-up findings of the patients with IL10 receptor mutations in terms of demographic, clinical, laboratory, and treatment response properties with those of patients diagnosed as having very early onset IBD with no mutation. RESULTS:We identified 3 patients bearing mutations in the IL10 or IL10 receptor genes, including 1 mutation in IL10RB that has been described recently (c.G477A, p.Trp159*) and 2 novel mutations affecting the IL10RA gene (c.T192G, p.Tyr64 and c.T133G, p.Trp45Gly). Collectively, these mutations thus provided genetic etiology for 17.6% of the cohort under investigation. The presence of a family history of IBD and the clinical course of Crohn disease differed between patients with mutations in the IL-10 pathway and those without such mutations. Although perianal fistulas were found in all of the patients with IL10 receptor mutations, they were found in only 14.3% of those without such mutations. The lower values of weight-for-age and height-for-age z scores, necessity for more intensive therapy, achievement of longer periods until remission, and frequent relapses in the patients bearing mutations in the IL10 receptor genes all underlined the severity of the disease and its relatively poor response to treatment. CONCLUSIONS:In spite of the small number of patients with mutations affecting the IL-10 signaling pathway in our study, in all of the patients with IL10 receptor mutations, the disease onset occurs at an early age, the prognosis is poor, and the response to treatment is insufficient.
journal_name
J Pediatr Gastroenterol Nutrjournal_title
Journal of pediatric gastroenterology and nutritionauthors
Beser OF,Conde CD,Serwas NK,Cokugras FC,Kutlu T,Boztug K,Erkan Tdoi
10.1097/MPG.0000000000000621subject
Has Abstractpub_date
2015-03-01 00:00:00pages
332-8issue
3eissn
0277-2116issn
1536-4801journal_volume
60pub_type
杂志文章abstract::Eicosanoids, derivatives of arachidonic acid, play a role in several inflammatory diseases of the bowel. To determine whether prostaglandin E2 (PGE2), leukotriene B4 (LTB4), and leukotriene C4D4E4 (LTC4D4E4), have a role in hypoxic insult to the intestine, we examined the levels of these mediators in a hypoxic neonata...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章
doi:10.1097/00005176-199208000-00005
更新日期:1992-08-01 00:00:00
abstract:BACKGROUND:Although the course of ulcerative proctitis in adults has been well described, little data are available concerning its clinical behavior in children and adolescents. This study sought to characterize the presentation, response to therapy, and long-term course of ulcerative proctitis in the pediatric populat...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章,多中心研究
doi:10.1097/00005176-199708000-00004
更新日期:1997-08-01 00:00:00
abstract:OBJECTIVES:Pediatric inflammatory bowel disease (IBD) often presents insidiously and standard blood tests are normal in 20% of patients. We hypothesize that fecal occult blood testing (FOBT) and the perianal examination in addition to blood tests provide important information during the screening process for IBD. The a...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章
doi:10.1097/MPG.0000000000000754
更新日期:2015-07-01 00:00:00
abstract::The cutoff limit for pathologic gastroesophageal reflux (GER) has been arbitrary, although generally accepted determined at pH 4.00. The influence of a small pH error (0.25 pH units above or below pH 4.00) was analyzed in 173 consecutive pH monitorings. This appeared to cause a misinterpretation of the data in 51 of 1...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章
doi:10.1097/00005176-199010000-00004
更新日期:1990-10-01 00:00:00
abstract:BACKGROUND:Total esophagogastric dissociation (TED) was first described in 1997 by Bianchi as a new surgical procedure to treat severe gastroesophageal reflux disease (GERD) in children with neurological impairment. Recently, TED has been proposed in other conditions, such as esophageal atresia, esotracheal cleft, or c...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章
doi:10.1097/MPG.0b013e3181a159fa
更新日期:2010-03-01 00:00:00
abstract:OBJECTIVE:We conducted a systematic review to determine and compare the diagnostic accuracy of contrast enema (CE), anorectal manometry (ARM) and rectal suction biopsy (RSB) in infants suspected of Hirschsprung disease. DESIGN:This is a systematic review. DATA SOURCES:Articles were identified through electronic searc...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章,评审
doi:10.1097/01.mpg.0000214164.90939.92
更新日期:2006-05-01 00:00:00
abstract:BACKGROUND:The efficiency with which breast- and formula-fed infants utilize dietary nutrients is likely to provide insight into their relative requirements for the growth process. METHODS:We measured longitudinal changes in growth, body composition, and dietary intakes in breast- and formula-fed infants and estimated...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章
doi:10.1097/00005176-199701000-00006
更新日期:1997-01-01 00:00:00
abstract::The apolipoprotein (apo) A-I:B ratio and the apo B concentration were determined by radial immunodiffusion in dried blood spot samples from 1,767 10- and 11-year-old children. Children with either apo A-I:B ratios below the first percentile or apo B levels above the 99th were recalled and plasma lipid and apolipoprote...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章
doi:
更新日期:1990-02-01 00:00:00
abstract::The synthetic opiate loperamide (LPMD) is an antidiarrheal compound which affects both intestinal motility and the transport of water and electrolytes. We have investigated its effects on ion transport in the stripped ileal mucosa of rabbits, mounted in Ussing chambers in vitro. Addition of LPMD to serosal bathing med...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章
doi:10.1097/00005176-198409000-00020
更新日期:1984-09-01 00:00:00
abstract:OBJECTIVES:To analyze the long-term results of Boerema anterior gastropexy using the Visick grading system in a university teaching hospital. METHODS:Retrospective review of 247 children with severe or complicated gastroesophageal reflux disease (GERD). Patients who underwent primary gastropexy between 1990 and 2001 w...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章
doi:10.1097/01.mpg.0000215313.72826.bc
更新日期:2006-07-01 00:00:00
abstract::To evaluate the prevalence and duration of viremia in relation to the features of liver disease, we investigated hepatitis B virus (HBV) DNA by the polymerase chain reaction in the serum of 39 children with chronic hepatitis B, after hepatitis B e antigen to antibody seroconversion. During a mean observation period of...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章
doi:10.1097/00005176-199604000-00008
更新日期:1996-04-01 00:00:00
abstract::Colonoscopy is a routinely performed procedure in children and adolescents. Proper visualization of the intestinal mucosa, completion of the procedure, including examination of the terminal ileum, detection of pathological lesions, and therapeutic maneuvers, all are highly dependent on the quality of the bowel prepara...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章,评审
doi:10.1097/MPG.0b013e3181eb6a1c
更新日期:2010-09-01 00:00:00
abstract:OBJECTIVES:In traditional access endoscopy (TAE), patients are booked for endoscopy following a gastroenterology clinic assessment. In contrast, open access endoscopy (OAE) patients are seen for the first time on the day of the procedure, providing same day procedural consent. Controversy exists over the use of OAE in ...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章
doi:10.1097/MPG.0000000000000677
更新日期:2015-05-01 00:00:00
abstract:BACKGROUND:Posttransplantation lymphoproliferative disorder (PTLD) may manifest a variety of nonspecific symptoms and must be suspected in the patient who undergoes solid organ transplantation. Common sites of occurrence include the gastrointestinal tract, the central nervous system, and lymphoid tissue of the oral pha...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章
doi:10.1097/00005176-200010000-00026
更新日期:2000-10-01 00:00:00
abstract::We evaluated the diagnostic delay (time from first symptoms to diagnosis) in 100 pediatric patients with Crohn disease (CD) and 75 patients with ulcerative colitis (UC). Median (interquartile range) diagnostic delay in patients with CD was 4 (2-8) (range 0-82) months compared with 2 (1-7) (range 0-52) months in patien...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章
doi:10.1097/MPG.0000000000001238
更新日期:2017-02-01 00:00:00
abstract:OBJECTIVES:Timed barium esophagram (TBE) is a fluoroscopic study that is widely employed as an adjunctive tool for diagnosing esophageal emptying disorders in adults (eg, achalasia, esophagogastric junction outflow obstruction [EGJOO]) and for following response to treatment. We aimed to describe the characteristics an...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章
doi:10.1097/MPG.0000000000002829
更新日期:2020-10-01 00:00:00
abstract:BACKGROUND:Cisapride is used frequently in premature neonates as a gastrointestinal prokinetic drug. Concerns exist, however, about its safety because of its effect on the QT interval. Premature infants could be at higher risk for side effects because of their immaturity. This prospective study investigated the pharmac...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章
doi:10.1097/00005176-200108000-00015
更新日期:2001-08-01 00:00:00
abstract:OBJECTIVES:Functional gastrointestinal disorders (FGIDs) are common in children. Their pathogenesis remains unknown and is most likely multifactorial. We hypothesized that noninfectious causes of inflammation affecting the gastrointestinal (GI) tract early in life, such as cow's-milk allergy (CMA), can predispose to th...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章
doi:10.1097/MPG.0b013e3181e85b55
更新日期:2011-02-01 00:00:00
abstract:OBJECTIVES:Pediatric patients with inflammatory bowel diseases (IBD) require treatment, monitoring, and health maintenance services. We described patterns of primary, specialty, emergency department (ED) and urgent care delivery, and explored patient- and system-related variables that impact ED/urgent care utilization....
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章
doi:10.1097/MPG.0000000000002703
更新日期:2020-07-01 00:00:00
abstract:OBJECTIVES:The prevalence of ulcerative colitis (UC) differs by country, which is likely due to differences in genetic factors among ethnicities. Moreover, the prevalence of pediatric UC with a family history (FH) is 4.1% in Japanese patients; its clinical course begins at an early age and is more severe. Recently, a g...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章
doi:10.1097/MPG.0000000000001275
更新日期:2016-11-01 00:00:00
abstract::Milk was obtained on postpartum days 2-3 (colostrum) and days 7, 21, 42, and 84 from mothers of 18 very premature (VPT, 26-30 weeks gestational age), 28 premature (PT, 31-36 weeks), and 6 term (T, 37-40 weeks) infants. Lipids were extracted in chloroform-methanol and analyzed by thin-layer (TLC) and gas liquid chromat...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章
doi:10.1097/00005176-198609000-00020
更新日期:1986-09-01 00:00:00
abstract::Two infants were diagnosed with dumping syndrome by a radionuclide gastric emptying method. Both patients presented with anorexia, weight loss, agitation and diaphoresis following bolus feeding by gastrostomy tube. One had documented hyperglycemia and glycosuria. Symptoms and signs of dumping in one patient were due t...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章
doi:
更新日期:1988-07-01 00:00:00
abstract:OBJECTIVES:The aim of the study was to determine whether embedding into the radiology report a patient-specific plan in the event of gastrojejunostomy (GJ) tube dysfunction reduces the need for after-hours utilization of pediatric interventional radiology resources for the replacement of GJ tubes. MATERIALS AND METHOD...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章
doi:10.1097/MPG.0000000000001267
更新日期:2016-09-01 00:00:00
abstract:BACKGROUND:Gastric lipase has an important compensatory function in neonatal fat digestion. The activity level of pepsin and its role in protein digestion is less well understood. We have, therefore, studied the ontogeny of lipase and pepsin in the ferret, a species with a neonatal fat digestion pattern similar to that...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章
doi:10.1097/00005176-199802000-00007
更新日期:1998-02-01 00:00:00
abstract:OBJECTIVES:Infectious diarrhea, a leading cause of morbidity and deaths, is less prevalent in breastfed infants compared with infants fed infant formula. The dominant human milk oligosaccharide (HMO), α-1,2-fucosyllactose (2'-FL), has structural homology to bacterial adhesion sites in the intestine and may in part expl...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章
doi:10.1097/MPG.0000000000001276
更新日期:2017-02-01 00:00:00
abstract:OBJECTIVES:Current pediatric guidelines allow noninvasive diagnosis of celiac disease in selected children. We investigated in a large cohort study whether the severity of villous atrophy at diagnosis is associated with clinical characteristics or long-term health outcomes, thus having a prognostic significance. METHO...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章
doi:10.1097/MPG.0000000000002675
更新日期:2020-07-01 00:00:00
abstract:OBJECTIVE:The purpose of this study was to evaluate the effects of oropharyngeal colostrum administration in the incidence of late-onset clinical and proven sepsis and in concentrations of immunoglobulin A (IgA) in very-low-birth-weight (VLBW) infants. METHODS:We conducted a double-blinded, randomized, placebo-control...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章,随机对照试验
doi:10.1097/MPG.0000000000002356
更新日期:2019-07-01 00:00:00
abstract:OBJECTIVES:The present study aims to identify the genotype-phenotype correlation in children with Peutz-Jeghers Syndrome (PJS) through the analysis of STK11 gene mutations in the context of clinical and pathological characteristics. METHOD:In this observational cohort study, the clinical characteristics of 18 families...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章
doi:10.1097/MPG.0000000000002166
更新日期:2019-02-01 00:00:00
abstract::The development of alkaline phosphatase, maltase, and sucrase activities in the duodenum of the chick embryo was followed in organ culture in chemically defined medium; 14-day duodenum was used in most experiments, with comparisons being made with 18-day tissue. As has been previously shown for the other enzymes, sucr...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章
doi:
更新日期:1982-01-01 00:00:00
abstract::Serum transferrin levels assess protein status in older children and adults. To generate standards for its use in newborn infants, we measured umbilical cord serum transferrin levels in 161 appropriate (AGA), 25 large (LGA) and 16 small (SGA) for gestational age infants between 25 and 43 weeks' gestation. We also asse...
journal_title:Journal of pediatric gastroenterology and nutrition
pub_type: 杂志文章
doi:10.1097/00005176-198703000-00020
更新日期:1987-03-01 00:00:00